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Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome

21 Sept 2018

Abstract excerpt

To evaluate the potential of an integrated clinical test to detect diverse classes of somatic and germline mutations relevant to pediatric oncology, we performed three-platform whole-genome (WGS), whole exome (WES) and transcriptome (RNA-Seq) sequencing of tumors and normal tissue from 78 pediatric cancer patients in a CLIA-certified, CAP-accredited laboratory. Our analysis pipeline achieves high accuracy by...

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PMID: 30262806
DOI: 10.1038/s41467-018-06485-7

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